Département de Génétique, Unité INSERM U781, Université Paris Descartes, Sorbonne Paris Cité, Tour Lavoisier, 149 rue de Sèvres, Paris, France.
Hum Mol Genet. 2011 Oct 15;20(R2):R163-7. doi: 10.1093/hmg/ddr361. Epub 2011 Aug 31.
ADAMTS designates a family of 19 secreted enzymes, whose the first member ADAMTS1 was described in 1997. The ADAMTS family has a role in extracellular matrix degradation and turn over and has previously been involved in various human biological processes, including connective tissue structure, cancer, coagulation, arthritis, angiogenesis and cell migration. More recently, the ADAMTS(L) family has been described, sharing the same ancillary domain but distinct by the absence of any enzyme activity. Mutations in ADAMTS13, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 have been identified in distinct human genetic disorders ranging from thrombotic thrombocytopenic purpura to acromelic dysplasia. The aim of our review was to emphasize the role of this family in the extracellular matrix based on human phenotypes so far identified in relation with ADAMTS(L) mutations.
ADAMTS 是一个家族的 19 种分泌酶，其首个成员 ADAMTS1 于 1997 年被描述。ADAMTS 家族在细胞外基质的降解和代谢中发挥作用，此前已涉及多种人类生物学过程，包括结缔组织结构、癌症、凝血、关节炎、血管生成和细胞迁移。最近，描述了 ADAMTS(L)家族，它具有相同的辅助结构域，但由于缺乏任何酶活性而不同。在从血栓性血小板减少性紫癜到肢端骨发育不全等不同的人类遗传疾病中，已鉴定出 ADAMTS13、ADAMTS2、ADAMTS10、ADAMTS17、ADAMTSL2 和 ADAMTSL4 的突变。我们的综述旨在强调该家族在细胞外基质中的作用，基于迄今为止与人表型相关的 ADAMTS(L)突变。
